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Table 1 GO analysis of repeat variants

From: Tandem repeat copy-number variation in protein-coding regions of human genes

Term

GO id

Variants

Non-variants

Statistical tests

  

Linked

Not linked

Linked

Not linked

    

(a) Primary hypothesis

         

Defense response

GO:0006952

9

150

475

7,979

Chi-squared test 0.98

Logistic regression 0.88

(b) All level 4

         
      

Fishers exact

Logistic regression

      

Fishers exact

Bonferroni

Logistic regression

Bonferroni

Most significant terms

         

Protein binding

GO:0005515

45

114

1,354

7,100

<0.00001

<0.0006

<0.00001

<0.0006

Morphogenesis

GO:0009653

28

131

783

7,671

0.001

0.064

0.001

0.064

Intracellular

GO:0005622

93

66

3,845

4,609

0.001

0.064

0.004

0.256

Transcription cofactor activity

GO:0003712

10

149

166

8,288

0.002

0.128

<0.00001

<0.0006

RNA polymerase II transcription factor activity

GO:0003702

9

150

150

8,304

0.003

0.192

0.001

0.064

Protein serine/threonine phosphatase complex

GO:0008287

3

156

19

8,435

0.007

0.448

<0.00001

<0.0006

Helicase activity

GO:0004386

6

153

93

8,361

0.01

0.64

0.007

0.448

Structural constituent of epidermis

GO:0030280

2

157

7

8,447

0.011

0.704

0.001

0.064

Regulation of physiological process

GO:0050791

37

122

1,339

7,115

0.016

1.024

0.014

0.896

Death

GO:0016265

11

148

272

8,182

0.02

1.28

0.01

0.64

Pattern specification

GO:0007389

2

157

17

8,437

0.047

3.008

0.013

0.832

Antigen binding

GO:0003823

2

157

18

8,436

0.052

3.328

0.021

1.344